Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. It is passed down in families. Epidermolysis bullosa can vary from minor blistering of the skin to a life-threatening form that affects other organs. Most types of this condition start at birth or soon after. It can be hard to identify the exact type of epidermolysis bullosa a person has.
Epidermolysis bullosa is classified into 3 major categories, including (1) epidermolysis bullosa simplex (intraepidermal skin separation), (2) junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ), and (3) dystrophic epidermolysis bullosa (sublamina densa BMZ separation)
Alopecia (hair loss)
Blisters around the eyes and nose
Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty
Blisters on the skin as a result of minor injury or temperature change
Blistering that is present at birth Dental problems such as tooth decay
Hoarse cry, cough, or other breathing problems
Tiny white bumps or pimples
Nail loss or deformed nails
Genetic testing Skin biopsy Special tests of skin samples under a microscope Blood test for anemia Culture to check for bacterial infection if wounds are healing poorly Upper endoscopy or an upper GI series if symptoms include swallowing problems Treatment: Medications: can help control pain and itching and address complications such as infection in the bloodstream (sepsis). An oral anti-inflammatory drug (corticosteroid) may help reduce the pain from dysphagia (difficulty swallowing).
Surgery: may be considered to correct normal motion or to improve ability to eat a healthy diet.
Rehabilitation therapy: Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and shortening of the skin (contracture). Swimming may also be helpful in preserving or regaining mobility.